Nucleotide and amino acid changes | Patient age | Patient population | Literature PMID |
---|---|---|---|
NM_001034853.1(RPGR): c.2447_2461delCTCCCCTTCATCTCC(p.Gly816Glufs) | 40/not provided | 2 | 11,875,055 |
NM_001034853.1(RPGR):c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer) | 37,40,48,51,74 | 5 | 15,914,600 |
NM_001034853.1(RPGR):c.2929G > T(p.Gly977Ter) | 22,44,50,70,73 | 8 | 15,914,600 |
NM_001034853.1(RPGR):c.3092_3093delAG (p.Glu1031Glyfs) | not provided | not provided | 11,857,109 |
NM_001034853.1(RPGR):c.3096_3097delGG (p.Glu1033Argfs) | 47/not provided | 2 | 32,047,640 |
47 | not provided | 11,857,109 | |
50,74 | 2 | 11,875,055 | |
NM_001034853.1(RPGR):c.3104_3105delAG (p.Glu1035Glyfs) | 11 | 2 | 32,047,640 |
NM_001034853.1(RPGR):c.3178_3179delGA (p.Glu1060Argfs) | 50 | 1 | 32,047,640 |
NM_001034853.1(RPGR):c.3308_3309delAT (p.Tyr1103Serfs) | 74 | 1 | 32,047,640 |
NM_001034853.1(RPGR):c.3399delG(p.Pro1134Hisfs) | 57 | 2 | 32,047,640 |